A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2493765



Internal ID17423916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7424517..7487791hg38UCSC Ensembl
Innerchr8:7282039..7345313hg19UCSC Ensembl
Innerchr8:7269449..7332723hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3863275
hg1963275
hg1863275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967555
Supporting Variants
SamplesHGDP00542
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, SPAG11B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2493765
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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